Lysosomal storage diseases — Flashcards

Flashcard 1: Describe, in general, the lysosomal storage diseases.

Answer: Diverse group of diseases resulting from defects in lysosomal enzymes, characterized by an accumulation of abnormal metabolic products within cells.

Flashcard 2: Pompe's disease (GSD type II)

Answer:

Extra: heart, liver, muscle manifestations, esp. cardiomegaly; early deathARlysosomal α-1,4-glucosidase (acid maltase)mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)

Flashcard 3: Where does mannose-6-phosphate tagging occur?

Answer: Golgi

Flashcard 4: A mannose-6-phosphate tag targets proteins for where?

Answer: lysosome